Functional analysis of the Arg91Gln substitution in the factor VIII binding domain of von Willebrand factor demonstrates variable phenotypic expression.

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Article

Functional analysis of the Arg91Gln substitution in the factor VIII binding domain of von Willebrand factor demonstrates variable phenotypic expression.

Thrombosis and haemostasis - 18 Oct 1993

Lavergne J M, Piao Y, Ribba A S, Girma J P, Siguret V, Piétu G, Boyer-Neumann C, Schandelong A, Bahnak B R, Meyer D

Abstract excerpt

An Arg91Gln substitution in the mature von Willebrand factor (vWF) has been associated with defective binding of vWF to factor VIII (FVIII). We studied four families with members initially classified as having type I von Willebrand disease (vWD) who were either homozygous or heterozygous for the...

Topics

Alleles
Arginine
Base Sequence
Factor VIII
Female
Genetic Variation
Glycine
Heterozygote
Homozygote
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Phenotype

Protein Binding

Protein Structure, Tertiary

von Willebrand Factor

Source

Open in PubMed

Identifiers

PMID: 8115998

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8115998-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Functional analysis of the Arg91Gln substitution in the factor VIII binding domain of von Willebrand factor demonstrates variable phenotypic expression.PMID 8115998Read ↗

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